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Inborn errors of carbohydrate metabolism are a heterogeneous subgroup of inborn errors that are caused by mutations in human genes coding for proteins involved in carbohydrate catabolic and anabolic pathways. Through the breakdown of sugars, carbohydrate catabolism allows a constant supply of energy (e.g. glycolysis), but also involves the breakdown of the cell’s complex oligosaccharides (e.g. lysosomal degradation of surface glycoconjugates) allowing the recycling of monosaccharides. On the other hand, anabolism of carbohydrates (e.g. gluconeogenesis) is required to supply newly synthesized sugars to catabolic pathways, also allowing interconversion of sugars and sustaining the synthetic pathways of complex carbohydrate structures such as glycosaminoglycans and glycans that are the carbohydrate moiety of glycoconjugates involved in multiple biological functions.
Chronic lymphocytic leukemia (CLL) is the most common leukemia in the Western world. CLL has a highly varied clinical course. While advances in CLL therapy are noted, many patients still succumb to this illness. Like most progress in medicine, solid advances in the diagnosis, prognosis and treatment of CLL are rooted in an in-depth understanding of the basic and translational biology of CLL. In this book, CLL experts have contributed state-of-the-art summaries of various important aspects of CLL biology and have discussed the translational implication of such findings. This book, which is directed at physicians and researchers alike, aims to educate broadly and deeply. Intentionally, the man...
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This two volume set LNBI 10208 and LNBI 10209 constitutes the proceedings of the 5th International Work-Conference on Bioinformatics and Biomedical Engineering, IWBBIO 2017, held in Granada, Spain, in April 2017. The 122 papers presented were carefully reviewed and selected from 309 submissions. The scope of the conference spans the following areas: advances in computational intelligence for critical care; bioinformatics for healthcare and diseases; biomedical engineering; biomedical image analysis; biomedical signal analysis; biomedicine; challenges representing large-scale biological data; computational genomics; computational proteomics; computational systems for modeling biological processes; data driven biology - new tools, techniques and resources; eHealth; high-throughput bioinformatic tools for genomics; oncological big data and new mathematical tools; smart sensor and sensor-network architectures; time lapse experiments and multivariate biostatistics.
This book constitutes the refereed proceedings of 4 workshops held at the 14th IFIP WG 12.5 International Conference on Artificial Intelligence Applications and Innovations, AIAI 2018, held in Rhodes, Greece, in May 2018. The workshops were the Workshop on Semantics in the Deep: Semantic Analytics for Big Data, SEDSEAL 2018; the Third Workshop on 5G - Putting Intelligence to the Network Edge, 5G-PINE 2018; the 7th Mining Humanistic Data Workshop, MHDW 2018; and the Workshop on Intelligent Cloud and IOT Paradigms in EHealth, HEALTHIOT 2018. The 19 full papers and 5 short papers presented were carefully reviewed and selected from a total of 53 submissions: SEDSEAL accepted 2 full papers out of 5 submissions, 5G-PINE 6 full and one short paper out of 24, MHDW 7 full and 4 short papers out of 15, and HEALTHIOT 4 full papers out of 9. The papers cover topics such as AI in 5G and telecommunications, AI and e-health services, AI in 5G networks, incremental learning, clustering, AI in text mining, visual data analytics, AI in molecular biology, DNA, RNA, proteins, big data analytics, Internet of Things and recommender systems, and AI in biomedical applications.
This issue of Hematology/Oncology Clinics, guest edited by Dr. Jennifer R. Brown︎, will focus on Chronic Lymphocytic Leukemia. This issue is one of six selected each year by our series consulting editors, Dr. George P. Canellos and Dr. Edward J. Benz. Topics discussed in this issue will include: Chronic Lymphocytic Leukemia: Do We Know the Cell of Origin Yet?; Significance of BCR Stereotypy; Prognostic and Predictive Implications of Cytogenetics and Genomics; Role of Epigenetics in Chronic Lymphocytic Leukemia; Genomics of Resistance to Targeted Therapies; First Line Therapy for Chronic Lymphocytic Leukemia; The Ongoing Unmet Needs in Chronic Lymphocytic Leukemia Therapy; BTK Inhibitors; Minimal Residual Disease; Should Undetectable MRD Be the Goal of Chronic Lymphocytic Leukemia Therapy?; Management of Chronic Lymphocytic Leukemia after Progression on BTK Inhibitors; Role of PI3K Inhibitors in Chronic Lymphocytic Leukemia; Can We Restore the Immunodeficiency of Chronic Lymphocytic Leukemia?; and Immune Therapy for Chronic Lymphocytic Leukemia
Medical diagnosis of tissue anomalies, particularly cancer, is often limited by the constraints of current imaging technologies. This book introduces two approaches to address this issue: the imaging and the non-imaging methods. In the imaging category, the book unveils a pioneering technique based on radio tomosynthesis. Initially proven effective in detecting breast anomalies, this imaging method is now under evaluation for its potential in identifying brain anomalies. For non-imaging diagnostics, it delves into Fourier-transform infrared spectroscopy (FTIR), a technique known for its speed and reliability. The book demonstrates its successful application in diagnosing a range of cancers, including oral, uterine, ovarian, gastrointestinal, colorectal, and skin cancers. Furthermore, it explores its utility in predicting embryo quality and assessing pressure injuries. To augment these methods, the book employs machine learning algorithms, evaluating their efficacy in creating discriminative models for tissue anomalies.